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MGP000537

UniProt Annotations

Entry Information
Gene Namecholine O-acetyltransferase
Protein EntryCLAT_HUMAN
UniProt IDP28329
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=M; Synonyms=83 kDa; IsoId=P28329-1; Sequence=Displayed; Name=S; Synonyms=74 kDa; IsoId=P28329-2; Sequence=VSP_000790; Name=R; Synonyms=70 kDa; IsoId=P28329-3; Sequence=VSP_000791;
Catalytic ActivityAcetyl-CoA + choline = CoA + O-acetylcholine.
DiseaseMyasthenic syndrome, congenital, associated with episodic apnea (CMSEA) [MIM:254210]: An autosomal recessive congenital myasthenic syndrome. Patients have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. {ECO:0000269|PubMed:11172068, ECO:0000269|PubMed:12756141}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses.
SimilarityBelongs to the carnitine/choline acetyltransferase family. {ECO:0000305}.
Web ResourceName=Wikipedia; Note=Choline acetyltransferase entry; URL="http://en.wikipedia.org/wiki/Choline_acetyltransferase";
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